Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: POMT2

Green List (high evidence)

POMT2 (protein O-mannosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 19 Apr 2022, 6:50 a.m. | Last Modified: 19 Apr 2022, 6:50 a.m.
Panel Version: 0.13071

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases with muscular dystrophy, paediatric onset
Sources: Expert Review
Created: 24 Feb 2020, 6:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MIM#613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MIM#613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM#613158

Publications

History Filter Activity

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: POMT2 was added gene: POMT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type